ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) (rs143024324)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623758 SCV000742911 uncertain significance Inborn genetic diseases 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000717307 SCV000848156 uncertain significance History of neurodevelopmental disorder 2018-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000711290 SCV000841627 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711290 SCV000113813 uncertain significance not provided 2014-12-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081878 SCV000597873 uncertain significance not specified 2016-06-24 criteria provided, single submitter clinical testing
Invitae RCV000634139 SCV000755435 likely benign Cohen syndrome 2017-11-02 criteria provided, single submitter clinical testing

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